Considerable heterogeneity, short stature,
generalized bone dysplasia. Facial anomalies include a small face with
prominent eyes appearing hyperteloric; broad nasal bridge with anteverted
nares; micrognathia; sometimes cleft palate; full cheeks; and gingival
hypertrophy. Small chest with ribbon-like ribs, sometimes pectus excavatum;
bowing of long bones, mainly tibia and radius (metaphyseal flaring on
radiograph), and short upper limbs; vertebral anomalies leading to
scoliosis. In case of severe lung disease, secondary pulmonary hypertension.
Mitral and/or tricuspid valve prolapse, hydronephrosis, omphalocele,
hypoplastic kidneys, and urethral obstruction can be associated in some
described cases.